Progressive bony dysplasia in Apert syndrome.
Ten patients with Apert syndrome (type I acrocephalosyndactyly) were studied. Seven of these patients were observed from infancy for periods ranging from 2 1/2 to 22 years. The patients presented with limited joint mobility and were found to have multiple radiographic abnormalities, including subluxated or flattened humeral heads, irregularities of the glenoid cavity, and early fusion of the calcaneus to the cuboid bone. The limitation of motion and bony defects were progressive, suggesting that Apert syndrome is a generalized dysplasia.
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004551:Elbow Joint / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009068:Movement; D009999:Ossification, Heterotopic / Q000000981:diagnostic imaging; D011859:Radiography; D012785:Shoulder Joint / Q000000981:diagnostic imaging